ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1180A>G (p.Ile394Val)

dbSNP: rs776977187
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001907343 SCV002124823 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-06-14 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs776977187, ExAC 0.006%). This variant has not been reported in the literature in individuals with DHTKD1-related conditions. This sequence change replaces isoleucine with valine at codon 394 of the DHTKD1 protein (p.Ile394Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.

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